NUBPL mutations in patients with complex I deficiency and a distinct MRI pattern.

  title={NUBPL mutations in patients with complex I deficiency and a distinct MRI pattern.},
  author={Sietske H G Kevelam and Richard J T Rodenburg and Nicole I Wolf and Patrick Ferreira and Roelineke J. Lunsing and Leo G. J. Nijtmans and Anne E Mitchell and Hugo Antonio Arroyo and Dietz Rating and Adeline Vanderver and Carola G. M. van Berkel and Truus E. M. Abbink and Peter Heutink and Marjo S. van der Knaap},
  volume={80 17},
OBJECTIVE To identify the mutated gene in a group of patients with an unclassified heritable white matter disorder sharing the same, distinct MRI pattern. METHODS We used MRI pattern recognition analysis to select a group of patients with a similar, characteristic MRI pattern. We performed whole-exome sequencing to identify the mutated gene. We examined patients' fibroblasts for biochemical consequences of the mutant protein. RESULTS We identified 6 patients from 5 unrelated families with a… CONTINUE READING
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MS van der Knaap, SN Breiter, S Naidu, AA Hart, J. Valk
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